Abstract
AbstractRecently, heterozygous loss-of-function NFKB1 variants were identified as the primary cause of common variable immunodeficiency (CVID) in the European population. However, pathogenic NFKB1 variants have never been reported in the Japanese population. We present a 29-year-old Japanese woman with CVID. A novel variant, c.136 C > T, p.(Gln46*), was identified in NFKB1. Her mother and daughter carried the same variant, demonstrating the first Japanese pedigree with an NFKB1 pathogenic variant.
Publisher
Springer Science and Business Media LLC
Reference20 articles.
1. Gathmann, B. et al. Clinical picture and treatment of 2212 patients with common variable immunodeficiency. J. Allergy Clin. Immunol. 134, 116–126 (2014).
2. Tuijnenburg, P. et al. Loss-of-function nuclear factor kB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans. J. Allergy Clin. Immunol. 142, 1285–1296 (2018).
3. Yamada, Y. Laboratory test values in children significantly depend on age: focus on alkaline phosphatase (ALP), alpha-fetoprotein (AFP), and immunoglobulins. Rinsho Byori 62, 795–801 (2014).
4. Garcia-Prat, M. et al. Extended immunophenotyping reference values in a healthy pediatric population. Cytom. B Clin. Cytom. 96, 223–233 (2019).
5. Schröder, C. et al. Late-onset antibody deficiency due to monoallelic alterations in NFKB1. Front. Imuunol. 10, 2618 (2019).